Additional Disease Briefs

choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Also known as: BCAHH, KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

choanal atresia, bilateral

choanal atresia, unilateral

cholestasis, intrahepatic, of pregnancy, 1

Also known as: ICP1, cholestasis, intrahepatic, of pregnancy, 1, cholestasis, intrahepatic, of pregnancy, type 1, cholestasis, pregnancy-related, 1

cholestasis, intrahepatic, of pregnancy, 3

Also known as: ICP3, cholestasis, intrahepatic, of pregnancy 3, cholestasis, intrahepatic, of pregnancy type 3

cholestasis, progressive familial intrahepatic, 10

Also known as: PFIC10, cholestasis, progressive familial intrahepatic, 10

cholestasis, progressive familial intrahepatic, 11

Also known as: PFIC11, cholestasis, progressive familial intrahepatic, 11

cholestasis, progressive familial intrahepatic, 12

Also known as: PFIC12, cholestasis, isolated low-ggt, cholestasis, progressive familial intrahepatic, 12